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Bottega, Roberta
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Preferred name
Bottega, Roberta
Main Affiliation
Email
roberta.bottega@burlo.trieste.it
ORCID
Scopus Author ID
47460981300
Researcher ID
J-1025-2018
Research Output
Now showing 1 - 7 of 7
- PublicationGNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
; ; ; ; ; ; ; ; ; - PublicationGenomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia
; ; ; ; - PublicationDysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
; ; ; - PublicationETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism
; ; ; ; - PublicationThings come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
; ; ; ; ; ; - PublicationExome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
; ; ;